Cardio-Facio-Cutaneous Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
A cardio-facio-cutaneous syndrome, also called cardio-facial-cutaneous syndrome , or CFC syndrome for short , is a very rare congenital combination of malformations with intellectual developmental delay.
It was first described in 1986 by JF Reynolds and colleagues.
The frequency and cause are unknown. Mutations in various genes are suspected, inheritance is autosomal dominant .
diagnosis
Clinical criteria are:
- Psychomotor retardation
- Nutritional problems with stunted growth ( short stature )
- Unusual face with microcephaly or macrocephaly
- Thin sparse hair on the head, missing eyebrows
- Congenital heart defects such as pulmonary stenosis , atrial septal defect , hypertrophic cardiomyopathy
- Skin changes such as ichthyosis
- Foot malformations such as polydactyly or syndactyly
Differential diagnosis
The Noonan syndrome and Costello syndrome are to be distinguished .
literature
- K. Haas, M. Schöning, H. Enders: The Cardio-Facio-Cutane Syndrome - Eye Diagnosis of a Rare Syndrome In: Klinische Pädiatrie. Volume 206, Number 3, 1994 May-Jun, pp. 181-183, ISSN 0300-8630 . doi: 10.1055 / s-2008-1046600 . PMID 8051913 .
- A. Bottani, I. Hammerer, A. Schinzel: The cardio-facio-cutaneous syndrome: report of a patient and review of the literature. In: European Journal of Pediatrics. Volume 150, Number 7, May 1991, pp. 486-488, ISSN 0340-6199 . PMID 1915501 . (Review).
Individual evidence
- ↑ JF Reynolds, G. Neri, JP Herrmann, B. Blumberg, JG Coldwell, PV Miles, JM Opitz: New multiple congenital anomalies / mental retardation syndrome with cardio-facio-cutaneous involvement - the CFC syndrome. In: American journal of medical genetics. Volume 25, Number 3, November 1986, pp. 413-427, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320250303 . PMID 3789005 .
- ↑ a b c Orphanet
- ↑ a b Genetics Home Reference
- ↑ Katherine A. Rauen: Cardiofaciocutaneous Syndrome . In: GeneReviews (®) . University of Washington, Seattle, Seattle (WA) January 1, 1993, PMID 20301365 ( nih.gov [accessed April 29, 2017]).
